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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 1 with or without anosmia
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Accession:DOID:0090094 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH1;   KAL1;   Kallmann syndrome 1;   Kallmann syndrome type 1, X-linked;   hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
 primary_id: OMIM:308700
 alt_id: RDO:9003767
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hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      Kallmann syndrome 9
        hypogonadotropic hypogonadism 1 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        Congenital Abnormalities 3901
          Urogenital Abnormalities 240
            sex development disorder 104
              46, XY Disorders of Sex Development 38
                Kallmann syndrome 9
                  hypogonadotropic hypogonadism 1 with or without anosmia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.